Babić Marija, Banović Maria, Berečić Ivana, Banić Tea, Babić Leko Mirjana, Ulamec Monika, Junaković Alisa, Kopić Janja, Sertić Jadranka, Barišić Nina, Šimić Goran
Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.
Department of Pathology, University Clinical Hospital Sestre Milosrdnice Zagreb, 10000 Zagreb, Croatia.
J Clin Med. 2023 Aug 1;12(15):5060. doi: 10.3390/jcm12155060.
Spinal muscular atrophy (SMA) is a progressive degenerative illness that affects 1 in every 6 to 11,000 live births. This autosomal recessive disorder is caused by homozygous deletion or mutation of the gene (survival motor neuron). As a backup, the gene has the gene, which produces only 10% of the functional SMN protein. Nusinersen and risdiplam, the first FDA-approved medications, act as pre-mRNA splicing modifiers and enhance the quantity of SMN protein produced by this gene. The emergence of new therapies for SMA has increased the demand for good prognostic and pharmacodynamic (response) biomarkers in SMA. This article discusses current molecular diagnostic, prognostic, and pharmacodynamic biomarkers that could be assessed in SMA patients' body fluids. Although various proteomic, genetic, and epigenetic biomarkers have been explored in SMA patients, more research is needed to uncover new prognostic and pharmacodynamic biomarkers (or a combination of biomarkers).
脊髓性肌萎缩症（SMA）是一种进行性退行性疾病，每6000至11000例活产中就有1例受其影响。这种常染色体隐性疾病是由基因（生存运动神经元）的纯合缺失或突变引起的。作为备用，基因有基因，它仅产生10%的功能性SMN蛋白。Nusinersen和risdiplam是首批获得美国食品药品监督管理局（FDA）批准的药物，它们作为前体信使核糖核酸（pre-mRNA）剪接修饰剂，可提高该基因产生的SMN蛋白数量。SMA新疗法的出现增加了对SMA中良好预后和药效学（反应）生物标志物的需求。本文讨论了可在SMA患者体液中评估的当前分子诊断、预后和药效学生物标志物。尽管已经在SMA患者中探索了各种蛋白质组学、遗传学和表观遗传学生物标志物，但仍需要更多研究来发现新的预后和药效学生物标志物（或生物标志物组合）。
